| Primary Identifier | MGI:88469 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 12845 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables BMP binding activity; integrin binding activity; and protease binding activity. Involved in cartilage homeostasis and protein homooligomerization. Acts upstream of or within several processes, including BMP signaling pathway; cartilage development; and vasculature development. Located in extracellular space. Part of protein-containing complex. Is expressed in several structures, including connective tissue; embryo mesenchyme; notochord; placenta; and skeletal system. Used to study multiple epiphyseal dysplasia and pseudoachondroplasia. Human ortholog(s) of this gene implicated in carpal tunnel syndrome 2; multiple epiphyseal dysplasia 1; osteochondrodysplasia; and pseudoachondroplasia. Orthologous to human COMP (cartilage oligomeric matrix protein). PHENOTYPE: Mice homozygous for a targeted null mutation are indistinguishable from controls. Mice homozygous for a knockin allele with two point mutations exhibit short limb dwarfism, osteoarthritis, abnormal chondrocytes, mild myopathy, and abnormal tendon morphology and stiffness. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
